rs797045863
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045863(-;-) |
Make rs797045863(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 2672652 |
Gene | PAFAH1B1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045863 |
dbSNP (classic) | rs797045863 |
ClinGen | rs797045863 |
ebi | rs797045863 |
HLI | rs797045863 |
Exac | rs797045863 |
Gnomad | rs797045863 |
Varsome | rs797045863 |
LitVar | rs797045863 |
Map | rs797045863 |
PheGenI | rs797045863 |
Biobank | rs797045863 |
1000 genomes | rs797045863 |
hgdp | rs797045863 |
ensembl | rs797045863 |
geneview | rs797045863 |
scholar | rs797045863 |
rs797045863 | |
pharmgkb | rs797045863 |
gwascentral | rs797045863 |
openSNP | rs797045863 |
23andMe | rs797045863 |
SNPshot | rs797045863 |
SNPdbe | rs797045863 |
MSV3d | rs797045863 |
GWAS Ctlg | rs797045863 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045863(-;-) |
Alt | rs797045863(-;-) |
Reference | Rs797045863(T;T) |
Significance | Probable-Pathogenic |
Disease | Lissencephaly 1 |
Variation | info |
Gene | PAFAH1B1 |
CLNDBN | Lissencephaly 1 |
Reversed | 0 |
HGVS | NC_000017.10:g.2575946delT |
CLNSRC | |
CLNACC | RCV000193791.1, |